665 results on '"Guéant, Jean‐Louis"'
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2. Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
3. Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications
4. A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism
5. Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases
6. Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis
7. Usefulness of procalcitonin at admission as a risk-stratifying biomarker for 50-day in-hospital mortality among patients with community-acquired bloodstream infection: an observational cohort study
8. Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study
9. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
10. Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
11. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
12. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
13. Multiparametric renal function assessment in cirrhotic patients shows high prevalence of medically actionable changes in multiple modules.
14. The EKFC equation outperforms the CKD‐EPI and CKiD equations for GFR estimation in adolescent and young adult kidney transplant patients.
15. Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
16. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study
17. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
18. Accuracy of procalcitonin for diagnosing peripheral blood culture contamination among patients with positive blood culture for potential contaminants
19. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
20. The spectrum of biochemical alterations associated with organ dysfunction and inflammatory status and their association with disease outcomes in severe COVID-19: A longitudinal cohort and time-series design study
21. Glucocorticoid Receptor Activation Restores Learning Memory by Modulating Hippocampal Plasticity in a Mouse Model of Brain Vitamin B12 Deficiency
22. Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)
23. Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
24. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
25. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
26. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
27. SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders
28. Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular Carcinoma
29. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
30. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
31. Wnt Signaling Pathways Are Dysregulated in Rat Female Cerebellum Following Early Methyl Donor Deficiency
32. Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature
33. A systematic review and metaanalysis of proteomic and metabolomic alterations in anaphylaxis reactions.
34. Minichromosome maintenance complex component 6 (MCM6) expression correlates with histological grade and survival in endometrioid endometrial adenocarcinoma
35. NOD2 gene variant is a risk factor for postoperative complications in patients with Crohn's disease: A genetic association study
36. Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency
37. Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.
38. CARD8 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease
39. HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping
40. Late Maternal Folate Supplementation Rescues from Methyl Donor Deficiency-Associated Brain Defects by Restoring Let-7 and miR-34 Pathways
41. Expression of neurotensin receptor 1 in endometrial adenocarcinoma is correlated with histological grade and clinical outcome
42. Follow-up study in local allergic rhinitis shows a consistent entity not evolving to systemic allergic rhinitis
43. TREM-1 Inhibition Restores Impaired Autophagy Activity and Reduces Colitis in Mice
44. MicroRNAs miR-16 and miR-519 control meningioma cell proliferation via overlapping transcriptomic programs shared with the RNA-binding protein HuR.
45. Genetic predictors of inflammation in the risk of occupational asthma in young apprentices
46. Folate and fetal programming: a play in epigenomics?
47. Ocular symptoms are not predictive of ophthalmologic inflammation in inflammatory bowel disease
48. Folate and Cobalamin Deficiencies during Pregnancy Disrupt the Glucocorticoid Response in Hypothalamus through N -Homocysteinilation of the Glucocorticoid Receptor.
49. Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency.
50. Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats
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